Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Analysis of two Chinese pedigrees affected with Alport syndrome due to novel variants of COL4A5 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2022

Guo Hongjun, Liu Fengxun, Yang Zijun

Abstract excerpt

OBJECTIVE: To explore the genetic basis for two Chinese pedigrees affected with Alport syndrome. METHODS: Potential variants of the COL4A5 gene were screened by next generation sequencing (NGS). Candidate variants were verified by Sanger sequencing of other members from the pedigrees as well as 100 healthy controls. ClustalX 2.1 win was used to analyze the conservation of amino acid sequences. SWISS-MODEL was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to China
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Nephritis, Hereditary

Share to Pedigree

Share to Pregnancy

Source

Identifiers

PMID: 36317207
DOI: 10.3760/cma.j.cn511374-20210706-00575

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of two Chinese pedigrees affected with Alport syndrome due to novel variants of COL4A5 gene].PMID 36317207Read ↗

[Genetic and clinical analysis of a pedigree affected with X-linked dominant Alport syndrome due to a novel variant of COL4A5 gene].Semantic proximity Read ↗

[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].Semantic proximity Read ↗

[Analysis of genetic variant in a child with autosomal recessive Alport syndrome].Semantic proximity Read ↗

[A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family].Semantic proximity Read ↗

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.Semantic proximity Read ↗

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.Semantic proximity Read ↗

[Analysis of Alport syndrome induced by type IV collagen alpha 5 gene mutation in two families].Semantic proximity Read ↗

Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndromeSemantic proximity Read ↗

A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.Semantic proximity Read ↗

Novel mutations of COL4A3 , COL4A4 , and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence techniqueSemantic proximity Read ↗

Improved genetic counseling in Alport syndrome by new variants of COL4A5 gene.Semantic proximity Read ↗

Autosomal recessive Alport syndrome caused by a novel COL4A4 compound heterozygous mutation: A case report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.